PTAFR

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a seven-transmembrane G-protein-coupled receptor for platelet-activating factor (PAF) that localizes to lipid rafts and/or caveolae in the cell membrane. PAF (1-0-alkyl-2-acetyl-sn-glycero-3-phosphorylcholine) is a phospholipid that plays a significant role in oncogenic transformation, tumor growth, angiogenesis, metastasis, and pro-inflammatory processes. Binding of PAF to the PAF-receptor (PAFR) stimulates numerous signal transduction pathways including phospholipase C, D, A2, mitogen-activated protein kinases (MAPKs), and the phosphatidylinositol-calcium second messenger system. Following PAFR activation, cells become rapidly desensitized and this refractory state is dependent on PAFR phosphorylation, internalization, and down-regulation. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G6.23984401
2neutrophil activation involved in immune response (GO:0002283)5.85786907
3negative regulation of leukocyte mediated cytotoxicity (GO:0001911)5.84272671
4negative regulation of cell killing (GO:0031342)5.84272671
5response to peptidoglycan (GO:0032494)5.54023107
6positive regulation by symbiont of host defense response (GO:0052509)5.39289869
7modulation by symbiont of host defense response (GO:0052031)5.39289869
8modulation by organism of immune response of other organism involved in symbiotic interaction (GO:005.39289869
9modulation by organism of defense response of other organism involved in symbiotic interaction (GO:05.39289869
10positive regulation by organism of defense response of other organism involved in symbiotic interact5.39289869
11modulation by symbiont of host immune response (GO:0052553)5.39289869
12positive regulation of interferon-alpha production (GO:0032727)5.07347864
13cellular extravasation (GO:0045123)4.80743393
14regulation of interferon-alpha production (GO:0032647)4.79503155
15antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.76119983
16immunoglobulin mediated immune response (GO:0016064)4.71327226
17detection of bacterium (GO:0016045)4.65319365
18macrophage activation involved in immune response (GO:0002281)4.54534205
19respiratory burst (GO:0045730)4.44059445
20detection of external biotic stimulus (GO:0098581)4.43843764
21hydrogen peroxide biosynthetic process (GO:0050665)4.43177532
22regulation of interferon-beta biosynthetic process (GO:0045357)4.42095753
23antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.30047376
24granulocyte activation (GO:0036230)4.25831613
25superoxide anion generation (GO:0042554)4.20961039
26neutrophil activation (GO:0042119)4.20243314
27production of molecular mediator involved in inflammatory response (GO:0002532)4.12981402
28microglial cell activation (GO:0001774)4.07465474
29regulation of gamma-delta T cell activation (GO:0046643)4.03993042
30positive regulation of antigen processing and presentation (GO:0002579)4.01476711
31positive regulation of interleukin-8 biosynthetic process (GO:0045416)3.97247048
32detection of biotic stimulus (GO:0009595)3.95731461
33reactive oxygen species biosynthetic process (GO:1903409)3.95058755
34positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.85515191
35positive regulation of cellular amide metabolic process (GO:0034250)3.84280273
36negative regulation of lymphocyte mediated immunity (GO:0002707)3.82477667
37regulation of dendritic cell antigen processing and presentation (GO:0002604)3.81150289
38response to host immune response (GO:0052572)3.79707123
39response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.79707123
40response to muramyl dipeptide (GO:0032495)3.79430510
41positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.77525523
42leukocyte migration involved in inflammatory response (GO:0002523)3.72357272
43positive regulation of chemokine biosynthetic process (GO:0045080)3.71910003
44regulation of mononuclear cell migration (GO:0071675)3.71632865
45* lipopolysaccharide-mediated signaling pathway (GO:0031663)3.70854044
46positive regulation of interferon-beta production (GO:0032728)3.70035166
47positive regulation of mast cell degranulation (GO:0043306)3.69969492
48positive regulation of mast cell activation involved in immune response (GO:0033008)3.69969492
49cellular response to type I interferon (GO:0071357)3.68465473
50type I interferon signaling pathway (GO:0060337)3.68465473
51myeloid cell activation involved in immune response (GO:0002275)3.66037502
52response to type I interferon (GO:0034340)3.63280859
53regulation of myeloid leukocyte mediated immunity (GO:0002886)3.59983234
54cellular response to interferon-beta (GO:0035458)3.58905258
55positive regulation of mast cell activation (GO:0033005)3.56463732
56macrophage activation (GO:0042116)3.53268774
57positive regulation of monocyte chemotaxis (GO:0090026)3.50779599
58regulation of T cell tolerance induction (GO:0002664)3.48749194
59regulation of tolerance induction (GO:0002643)3.48452802
60positive regulation of myeloid leukocyte cytokine production involved in immune response (GO:00610813.47201231
61negative regulation of T cell mediated immunity (GO:0002710)3.46547577
62positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)3.46111150
63B cell mediated immunity (GO:0019724)3.45035728
64regulation of antigen processing and presentation (GO:0002577)3.44012179
65negative regulation of interleukin-17 production (GO:0032700)3.43826532
66negative regulation of leukocyte mediated immunity (GO:0002704)3.41519138
67natural killer cell mediated immunity (GO:0002228)3.40867856
68natural killer cell mediated cytotoxicity (GO:0042267)3.40867856
69positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)3.40405208
70regulation of mast cell degranulation (GO:0043304)3.39536240
71response to host (GO:0075136)3.39050348
72response to host defenses (GO:0052200)3.39050348
73response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.39050348
74regulation of leukocyte degranulation (GO:0043300)3.37838783
75regulation of T-helper 1 cell differentiation (GO:0045625)3.37162019
76cellular response to exogenous dsRNA (GO:0071360)3.36074413
77positive regulation of interleukin-12 production (GO:0032735)3.36029999
78response to interleukin-15 (GO:0070672)3.35002506
79response to interferon-beta (GO:0035456)3.34755760
80T-helper 1 type immune response (GO:0042088)3.34238261
81defense response to protozoan (GO:0042832)3.34101356
82regulation of chemokine biosynthetic process (GO:0045073)3.34078123
83regulation of syncytium formation by plasma membrane fusion (GO:0060142)3.32690779
84myeloid dendritic cell differentiation (GO:0043011)3.32284890
85germinal center formation (GO:0002467)3.30167851
86regulation of gamma-delta T cell differentiation (GO:0045586)3.29733489
87regulation of B cell receptor signaling pathway (GO:0050855)3.28596438
88response to interferon-alpha (GO:0035455)3.27690733
89negative regulation of viral genome replication (GO:0045071)3.24436516
90regulation of mast cell activation (GO:0033003)3.22671715
91leukocyte mediated cytotoxicity (GO:0001909)3.21537026
92lymphocyte chemotaxis (GO:0048247)3.20990751
93negative regulation of myeloid cell apoptotic process (GO:0033033)3.20809506
94positive regulation of type 2 immune response (GO:0002830)3.20652982
95detection of other organism (GO:0098543)3.20350961
96myeloid leukocyte mediated immunity (GO:0002444)3.19892376
97regulation of mast cell activation involved in immune response (GO:0033006)3.19607825
98myeloid dendritic cell activation (GO:0001773)3.19379678
99* interferon-gamma-mediated signaling pathway (GO:0060333)3.19264027
100antigen processing and presentation of endogenous antigen (GO:0019883)3.17819939
101detection of molecule of bacterial origin (GO:0032490)3.17532751
102G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)3.16668668
103regulation of interleukin-12 biosynthetic process (GO:0045075)3.16326775
104eosinophil chemotaxis (GO:0048245)3.14820588
105regulation of tumor necrosis factor biosynthetic process (GO:0042534)3.14589441
106leukocyte degranulation (GO:0043299)3.12630462
107B cell receptor signaling pathway (GO:0050853)3.12391386
108antigen processing and presentation via MHC class Ib (GO:0002475)3.10612087
109positive regulation of lymphocyte migration (GO:2000403)3.10464438
110cellular response to interleukin-15 (GO:0071350)3.09737127
111cellular response to zinc ion (GO:0071294)3.09331001
112negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)3.06575654
113myeloid leukocyte activation (GO:0002274)3.05345000
114regulation of activation of Janus kinase activity (GO:0010533)3.03946166
115regulation of nitric-oxide synthase biosynthetic process (GO:0051769)3.02959340
116positive regulation of interleukin-2 biosynthetic process (GO:0045086)3.02369960
117positive regulation of heat generation (GO:0031652)3.01660837
118dendritic cell chemotaxis (GO:0002407)3.01255130
119monocyte chemotaxis (GO:0002548)3.01028325
120positive regulation of B cell differentiation (GO:0045579)3.00673156
121negative regulation of interleukin-12 production (GO:0032695)3.00293608
122leukocyte aggregation (GO:0070486)2.98318366
123positive regulation of interferon-gamma biosynthetic process (GO:0045078)2.97888814
124positive regulation of myeloid leukocyte mediated immunity (GO:0002888)2.97849711
125positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)2.97815073
126positive regulation of tumor necrosis factor superfamily cytokine production (GO:1903557)2.97483801
127dendritic cell migration (GO:0036336)2.97132491
128negative regulation of mast cell activation (GO:0033004)2.94783504
129positive regulation of gamma-delta T cell activation (GO:0046645)2.94562663
130neutrophil chemotaxis (GO:0030593)2.94152470
131regulation of B cell differentiation (GO:0045577)2.93547657
132negative regulation of interleukin-6 production (GO:0032715)2.93271118
133regulation of T-helper 2 cell differentiation (GO:0045628)2.93063766
134neutrophil mediated immunity (GO:0002446)2.92703713
135regulation of interleukin-12 production (GO:0032655)2.92187574
136regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.92018825
137positive regulation of chemokine production (GO:0032722)2.91918063
138regulation of T cell mediated cytotoxicity (GO:0001914)2.91834520
139regulation of regulated secretory pathway (GO:1903305)2.91339717
140positive regulation of toll-like receptor signaling pathway (GO:0034123)2.90547094
141positive regulation of tolerance induction (GO:0002645)2.89653313
142response to protozoan (GO:0001562)2.89296878

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human7.87889426
2IRF8_21731497_ChIP-ChIP_J774_Mouse7.81269220
3IRF8_22096565_ChIP-ChIP_GC-B_Human7.45300050
4IRF8_27001747_Chip-Seq_BMDM_Mouse4.77442240
5IRF8_22096565_ChIP-ChIP_GC-B_Mouse4.48958804
6IRF1_21803131_ChIP-Seq_MONOCYTES_Human4.41026478
7SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse4.28061453
8* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse3.70589233
9* Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse3.69504569
10FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.48979903
11* MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.32105494
12* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.96852263
13MYB_21317192_ChIP-Seq_ERMYB_Mouse2.92400110
14STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.90514327
15SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.87740112
16STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.74358136
17STAT4_19710469_ChIP-ChIP_TH1__Mouse2.52384456
18NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.34608845
19* SPI1_23547873_ChIP-Seq_NB4_Human2.16727237
20EGR1_19374776_ChIP-ChIP_THP-1_Human2.05881934
21BRD4_27068464_Chip-Seq_AML-cells_Mouse2.03894715
22PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse2.03679961
23SCL_19346495_ChIP-Seq_HPC-7_Human1.91887956
24PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.86975396
25CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.79880651
26* STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.78535369
27PU_27001747_Chip-Seq_BMDM_Mouse1.76197093
28CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.74001943
29RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.73528351
30CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.70379709
31MYC_22102868_ChIP-Seq_BL_Human1.69435990
32* VDR_24787735_ChIP-Seq_THP-1_Human1.67584815
33KDM2B_26808549_Chip-Seq_SUP-B15_Human1.65781969
34STAT6_21828071_ChIP-Seq_BEAS2B_Human1.63520465
35* RUNX_20019798_ChIP-Seq_JUKART_Human1.62098184
36RUNX1_22412390_ChIP-Seq_EML_Mouse1.61560247
37* VDR_24763502_ChIP-Seq_THP-1_Human1.59746094
38* MYB_26560356_Chip-Seq_TH2_Human1.55292629
39* SPI1_23127762_ChIP-Seq_K562_Human1.54972709
40CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.50630827
41MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.43540263
42CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.40833579
43THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.38573722
44KDM2B_26808549_Chip-Seq_DND41_Human1.37874428
45PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.36989755
46NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.36506267
47LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.36120109
48FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.34887989
49* LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.34544466
50ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.30248058
51* VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.25559718
52MAF_26560356_Chip-Seq_TH1_Human1.25495746
53SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.23317482
54KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.23274843
55* FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.23034554
56SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.21832460
57GATA2_21666600_ChIP-Seq_HMVEC_Human1.18634125
58KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.17699320
59MYB_26560356_Chip-Seq_TH1_Human1.16571957
60* GATA3_26560356_Chip-Seq_TH2_Human1.16416553
61PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.16021453
62GATA1_19941826_ChIP-Seq_K562_Human1.15068841
63VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.11845670
64SMAD_19615063_ChIP-ChIP_OVARY_Human1.11033176
65BCL6_27268052_Chip-Seq_Bcells_Human1.08258243
66ELK3_25401928_ChIP-Seq_HUVEC_Human1.08098445
67GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.08053168
68GATA1_22025678_ChIP-Seq_K562_Human1.07968551
69* GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.07044317
70NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.06797415
71SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.05114059
72LXR_22292898_ChIP-Seq_THP-1_Human1.03883729
73GATA2_22383799_ChIP-Seq_G1ME_Mouse1.03037651
74GATA3_27048872_Chip-Seq_THYMUS_Human1.00055749
75ELF1_17652178_ChIP-ChIP_JURKAT_Human0.98301674
76EGR1_19032775_ChIP-ChIP_M12_Human0.97236922
77BCOR_27268052_Chip-Seq_Bcells_Human0.97149846
78CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.96257342
79STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.96118180
80CDX2_19796622_ChIP-Seq_MESCs_Mouse0.95922896
81IKZF1_21737484_ChIP-ChIP_HCT116_Human0.93281273
82VDR_21846776_ChIP-Seq_THP-1_Human0.90203591
83* E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.87505539
84CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.86874707
85* KDM2B_26808549_Chip-Seq_JURKAT_Human0.82442861
86NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.82211169
87NRF2_20460467_ChIP-Seq_MEFs_Mouse0.82211169
88RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.81679208
89SOX2_20726797_ChIP-Seq_SW620_Human0.80087496
90RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.76615908
91GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.74898401
92GATA1_19941827_ChIP-Seq_MEL86_Mouse0.74608908
93TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.74366375
94UTX_26944678_Chip-Seq_JUKART_Human0.74280165
95STAT1_20625510_ChIP-Seq_HELA_Human0.73309268
96* NCOR1_26117541_ChIP-Seq_K562_Human0.73098960
97PU.1_20513432_ChIP-Seq_Bcells_Mouse0.73085606
98GATA1_19941827_ChIP-Seq_MEL_Mouse0.71689303
99TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.71555976
100SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.70354128
101CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.69585960
102GATA1_22383799_ChIP-Seq_G1ME_Mouse0.67106475
103JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.63370215
104CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.62783238
105SPI1_20517297_ChIP-Seq_HL60_Human0.61452667
106* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.61419627
107JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.61208903
108EGR1_23403033_ChIP-Seq_LIVER_Mouse0.60626071
109MAF_26560356_Chip-Seq_TH2_Human0.60253766
110TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.59748429
111CJUN_26792858_Chip-Seq_BT549_Human0.59445064
112TP63_17297297_ChIP-ChIP_HaCaT_Human0.57859202
113* GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.57807639
114* GATA2_19941826_ChIP-Seq_K562_Human0.57015599
115SMRT_27268052_Chip-Seq_Bcells_Human0.55407543
116RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.54652117
117ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.54187523
118KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse0.54065035
119TCF7_22412390_ChIP-Seq_EML_Mouse0.53568316
120SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.53187204
121SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.53187204
122TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.53153169

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation5.09670331
2MP0009785_altered_susceptibility_to4.03454208
3MP0003436_decreased_susceptibility_to3.96326669
4* MP0002148_abnormal_hypersensitivity_rea3.93491715
5MP0006082_CNS_inflammation3.69098477
6MP0002419_abnormal_innate_immunity3.46135941
7MP0005000_abnormal_immune_tolerance3.38691508
8MP0003724_increased_susceptibility_to3.36779772
9* MP0005025_abnormal_response_to3.10817288
10MP0005671_abnormal_response_to2.98892292
11MP0003303_peritoneal_inflammation2.94757242
12MP0005058_abnormal_lysosome_morphology2.82853902
13MP0002452_abnormal_antigen_presenting2.79206348
14MP0000685_abnormal_immune_system2.73529246
15MP0005387_immune_system_phenotype2.71661019
16MP0001790_abnormal_immune_system2.71661019
17MP0002723_abnormal_immune_serum2.59467600
18MP0001800_abnormal_humoral_immune2.56526053
19MP0004510_myositis2.46377533
20MP0005464_abnormal_platelet_physiology2.36706437
21MP0001819_abnormal_immune_cell2.33246693
22MP0002420_abnormal_adaptive_immunity2.28944375
23MP0003191_abnormal_cellular_cholesterol2.22807592
24MP0001853_heart_inflammation2.18734632
25MP0001533_abnormal_skeleton_physiology2.12474227
26MP0009764_decreased_sensitivity_to2.03894879
27MP0002405_respiratory_system_inflammati1.98482026
28* MP0001845_abnormal_inflammatory_respons1.94438813
29MP0003075_altered_response_to1.85164307
30MP0003172_abnormal_lysosome_physiology1.83604766
31MP0000343_altered_response_to1.81946574
32MP0004947_skin_inflammation1.77468873
33MP0009278_abnormal_bone_marrow1.76165219
34MP0008469_abnormal_protein_level1.75505336
35MP0005310_abnormal_salivary_gland1.72014472
36MP0003448_altered_tumor_morphology1.69918494
37MP0010155_abnormal_intestine_physiology1.69612476
38MP0002006_tumorigenesis1.66764823
39MP0000716_abnormal_immune_system1.59338001
40MP0009333_abnormal_splenocyte_physiolog1.58683471
41MP0002998_abnormal_bone_remodeling1.51110685
42MP0002398_abnormal_bone_marrow1.45885196
43MP0000858_altered_metastatic_potential1.44397617
44MP0003690_abnormal_glial_cell1.43051956
45MP0002277_abnormal_respiratory_mucosa1.42498311
46MP0005397_hematopoietic_system_phenotyp1.41154331
47MP0001545_abnormal_hematopoietic_system1.41154331
48MP0009840_abnormal_foam_cell1.36075023
49MP0004782_abnormal_surfactant_physiolog1.35307954
50MP0005166_decreased_susceptibility_to1.29327850
51MP0000689_abnormal_spleen_morphology1.26437881
52MP0002429_abnormal_blood_cell1.25719666
53MP0005164_abnormal_response_to1.22624294
54MP0003828_pulmonary_edema1.21998681
55MP0000569_abnormal_digit_pigmentation1.20188363
56MP0004381_abnormal_hair_follicle1.16991696
57MP0003186_abnormal_redox_activity1.12096217
58MP0002722_abnormal_immune_system1.10822761
59MP0000604_amyloidosis1.10494654
60MP0000703_abnormal_thymus_morphology1.07782831
61MP0005174_abnormal_tail_pigmentation1.05646413
62MP0002166_altered_tumor_susceptibility1.04633065
63MP0005390_skeleton_phenotype1.01602261
64MP0003806_abnormal_nucleotide_metabolis0.98062010
65MP0009763_increased_sensitivity_to0.97731187
66MP0002396_abnormal_hematopoietic_system0.95890519
67MP0002138_abnormal_hepatobiliary_system0.93580505
68MP0004883_abnormal_blood_vessel0.89861932
69MP0000015_abnormal_ear_pigmentation0.89415433
70MP0002933_joint_inflammation0.88529024
71MP0002254_reproductive_system_inflammat0.87957554
72MP0010307_abnormal_tumor_latency0.87067216
73MP0001663_abnormal_digestive_system0.86091357
74MP0000371_diluted_coat_color0.85480040
75MP0003195_calcinosis0.81243992
76MP0009765_abnormal_xenobiotic_induced0.78730917
77MP0001851_eye_inflammation0.78397692
78MP0008260_abnormal_autophagy0.74339804
79* MP0000249_abnormal_blood_vessel0.71107009
80MP0003453_abnormal_keratinocyte_physiol0.69172373
81MP0005075_abnormal_melanosome_morpholog0.68541132
82MP0003183_abnormal_peptide_metabolism0.67766995
83MP0003300_gastrointestinal_ulcer0.66684077
84MP0001873_stomach_inflammation0.66563653
85MP0005076_abnormal_cell_differentiation0.65569883
86MP0003045_fibrosis0.64624415
87MP0003795_abnormal_bone_structure0.64584396
88MP0001986_abnormal_taste_sensitivity0.64279183
89MP0008874_decreased_physiological_sensi0.63265813
90MP0002332_abnormal_exercise_endurance0.63053949
91MP0004808_abnormal_hematopoietic_stem0.60815517
92MP0000920_abnormal_myelination0.59866658
93MP0000465_gastrointestinal_hemorrhage0.59417950
94MP0000490_abnormal_crypts_of0.59269215
95MP0002136_abnormal_kidney_physiology0.58756016
96MP0003763_abnormal_thymus_physiology0.58071322
97MP0003656_abnormal_erythrocyte_physiolo0.57975160
98MP0004130_abnormal_muscle_cell0.57773482
99MP0003566_abnormal_cell_adhesion0.57461162
100MP0000767_abnormal_smooth_muscle0.57295264
101MP0010386_abnormal_urinary_bladder0.56254017
102MP0003329_amyloid_beta_deposits0.55923313
103MP0005319_abnormal_enzyme/_coenzyme0.53176783
104MP0008873_increased_physiological_sensi0.51898581
105MP0002132_abnormal_respiratory_system0.51274833
106MP0005451_abnormal_body_composition0.51111262
107MP0008004_abnormal_stomach_pH0.50896668
108MP0003866_abnormal_defecation0.49769906
109MP0005171_absent_coat_pigmentation0.49563601
110MP0000609_abnormal_liver_physiology0.48909138
111* MP0005167_abnormal_blood-brain_barrier0.48568444
112MP0003221_abnormal_cardiomyocyte_apopto0.48501221
113MP0003091_abnormal_cell_migration0.47851447
114MP0002133_abnormal_respiratory_system0.47470946
115MP0005257_abnormal_intraocular_pressure0.47197631
116MP0002090_abnormal_vision0.46845756
117MP0002693_abnormal_pancreas_physiology0.46677241

Predicted human phenotypes

RankGene SetZ-score
1Recurrent abscess formation (HP:0002722)8.13811124
2Recurrent bacterial skin infections (HP:0005406)7.34526088
3Eczematoid dermatitis (HP:0000976)7.08474864
4Recurrent gram-negative bacterial infections (HP:0005420)6.33250406
5Systemic lupus erythematosus (HP:0002725)5.30224615
6Mediastinal lymphadenopathy (HP:0100721)5.25017907
7Abnormality of macrophages (HP:0004311)5.19789468
8Elevated erythrocyte sedimentation rate (HP:0003565)4.47210892
9Gingivitis (HP:0000230)4.41001081
10Stomatitis (HP:0010280)4.39163272
11Vacuolated lymphocytes (HP:0001922)4.34512581
12Recurrent skin infections (HP:0001581)4.30027729
13Increased cerebral lipofuscin (HP:0011813)4.22459869
14Increased neuronal autofluorescent lipopigment (HP:0002074)4.21767193
15Obstructive lung disease (HP:0006536)4.16435551
16Chronic obstructive pulmonary disease (HP:0006510)4.16435551
17Autoimmune thrombocytopenia (HP:0001973)4.03826185
18Myositis (HP:0100614)4.02734530
19Abnormality of glycosphingolipid metabolism (HP:0004343)3.98872146
20Abnormality of glycolipid metabolism (HP:0010969)3.98872146
21Abnormality of liposaccharide metabolism (HP:0010968)3.98872146
22Orchitis (HP:0100796)3.93071803
23Optic neuritis (HP:0100653)3.88883383
24Retrobulbar optic neuritis (HP:0100654)3.88883383
25Glomerulonephritis (HP:0000099)3.86044566
26Encephalitis (HP:0002383)3.60152205
27Abnormal delayed hypersensitivity skin test (HP:0002963)3.57394988
28Recurrent fungal infections (HP:0002841)3.56428252
29Basal ganglia calcification (HP:0002135)3.46135139
30Pustule (HP:0200039)3.44469723
31Increased IgM level (HP:0003496)3.44293347
32Thick nail (HP:0001805)3.35388386
33Increased IgE level (HP:0003212)3.33257325
34Vasculitis (HP:0002633)3.32055820
35Axonal loss (HP:0003447)3.26059412
36Periodontitis (HP:0000704)3.24811082
37Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)3.15711471
38Prostate neoplasm (HP:0100787)3.10210290
39Interstitial pulmonary disease (HP:0006530)3.10063814
40Chest pain (HP:0100749)3.07699072
41Cellulitis (HP:0100658)3.06615696
42Recurrent viral infections (HP:0004429)3.06474190
43Disinhibition (HP:0000734)3.03472255
44Amyloidosis (HP:0011034)2.97408455
45Episodic fever (HP:0001954)2.94945967
46Petechiae (HP:0000967)2.89727742
47T lymphocytopenia (HP:0005403)2.88583234
48Meningitis (HP:0001287)2.85756929
49Pulmonary infiltrates (HP:0002113)2.84280385
50Nephritis (HP:0000123)2.80352767
51Urticaria (HP:0001025)2.73010202
52Recurrent pneumonia (HP:0006532)2.72797575
53Anorexia (HP:0002039)2.71400143
54Dysostosis multiplex (HP:0000943)2.65932389
55Agnosia (HP:0010524)2.64727200
56Pulmonary embolism (HP:0002204)2.64718258
57Hypochromic microcytic anemia (HP:0004840)2.64580425
58Hematochezia (HP:0002573)2.58645192
59Recurrent cutaneous fungal infections (HP:0011370)2.57926519
60Chronic mucocutaneous candidiasis (HP:0002728)2.57926519
61Hypochromic anemia (HP:0001931)2.54906443
62Gangrene (HP:0100758)2.52590981
63Poor head control (HP:0002421)2.52096972
64Peritonitis (HP:0002586)2.51589387
65Loss of speech (HP:0002371)2.49343446
66Purpura (HP:0000979)2.49002263
67Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.48146881
68Osteomyelitis (HP:0002754)2.46782130
69Leukocytosis (HP:0001974)2.44146282
70Hepatosplenomegaly (HP:0001433)2.43032844
71Tetraparesis (HP:0002273)2.41974999
72Hypergammaglobulinemia (HP:0010702)2.40727561
73Abnormality of T cells (HP:0002843)2.40122771
74Gastrointestinal inflammation (HP:0004386)2.39074252
75Premature loss of primary teeth (HP:0006323)2.38177121
76Abnormality of complement system (HP:0005339)2.37937571
77Recurrent lower respiratory tract infections (HP:0002783)2.37675796
78Gingival bleeding (HP:0000225)2.34216738
79Chronic otitis media (HP:0000389)2.33726408
80Arterial thrombosis (HP:0004420)2.30711134
81Keratoconjunctivitis sicca (HP:0001097)2.26668901
82Increased serum ferritin (HP:0003281)2.24921569
83Panhypogammaglobulinemia (HP:0003139)2.23910350
84Granulocytopenia (HP:0001913)2.22423402
85Bone pain (HP:0002653)2.18339913
86Pathologic fracture (HP:0002756)2.15947873
87Colitis (HP:0002583)2.15771786
88Joint hemorrhage (HP:0005261)2.15693257
89Myocardial infarction (HP:0001658)2.15628135
90Vertigo (HP:0002321)2.15592054
91Abnormality of the endocardium (HP:0004306)2.14007801
92Osteolytic defects of the hand bones (HP:0009699)2.12219847
93Osteolytic defects of the phalanges of the hand (HP:0009771)2.12219847
94Mucopolysacchariduria (HP:0008155)2.10882333
95Urinary glycosaminoglycan excretion (HP:0003541)2.10882333
96Hemoptysis (HP:0002105)2.08027495
97Abnormality of iron homeostasis (HP:0011031)2.07757746
98Glomerulopathy (HP:0100820)2.07629533
99Lymphopenia (HP:0001888)2.07602423
100Vertebral compression fractures (HP:0002953)2.07204570
101Keratoconjunctivitis (HP:0001096)2.06542655
102Progressive visual loss (HP:0000529)2.05513179
103Epistaxis (HP:0000421)2.05318816
104Polyneuropathy (HP:0001271)2.04332803
105Abnormality of the peritoneum (HP:0002585)2.02752420
106Abnormality of T cell physiology (HP:0011840)2.01648372
107Sepsis (HP:0100806)2.00429759
108Abnormality of the prostate (HP:0008775)1.99395049
109Microcytic anemia (HP:0001935)1.98539645
110Abnormality of mucopolysaccharide metabolism (HP:0011020)1.98080598
111Abnormality of polysaccharide metabolism (HP:0011012)1.98080598
112Abnormality of glycosaminoglycan metabolism (HP:0004371)1.98080598
113Acne (HP:0001061)1.97681222
114Parkinsonism with favorable response to dopaminergic medication (HP:0002548)1.97034585
115Keratitis (HP:0000491)1.96485352
116Abnormality of cells of the lymphoid lineage (HP:0012140)1.95014200
117Complement deficiency (HP:0004431)1.93850737
118Gastrointestinal infarctions (HP:0005244)1.93389649
119Cheilitis (HP:0100825)1.93348409
120Albinism (HP:0001022)1.91182281
121Abnormality of the pleura (HP:0002103)1.90749533
122Prolonged bleeding time (HP:0003010)1.90117652
123Abnormality of the pericardium (HP:0001697)1.88073855
124Inflammation of the large intestine (HP:0002037)1.87709682
125Thyroiditis (HP:0100646)1.87427585
126Abnormality of T cell number (HP:0011839)1.86911783
127Upper motor neuron abnormality (HP:0002127)1.86027410
128Prolonged neonatal jaundice (HP:0006579)1.85879700
129Arthralgia (HP:0002829)1.85113009
130Restrictive lung disease (HP:0002091)1.84368775
131Gastrointestinal stroma tumor (HP:0100723)1.83053181
132Skin ulcer (HP:0200042)1.80686275
133Porencephaly (HP:0002132)1.79876658
134Eosinophilia (HP:0001880)1.79848091
135Spontaneous hematomas (HP:0007420)1.77888241

Predicted kinase interactions (KEA)

RankGene SetZ-score
1RIPK45.06472151
2MAP3K145.02436935
3BLK4.43489608
4TBK13.66801622
5IRAK43.53221776
6IRAK33.07453228
7PBK2.99763007
8IKBKB2.83474474
9TYK22.80963792
10IKBKE2.77789906
11TXK2.46299959
12JAK32.28328193
13MAP4K12.24985688
14KIT2.21771701
15TNK22.04554841
16NEK92.03619865
17PIM21.97680175
18GRK61.91352975
19JAK11.83715187
20BMPR21.80112057
21TAOK11.71900127
22MAP3K31.66082649
23CHUK1.56170263
24CSK1.48190424
25SYK1.46014245
26TGFBR21.41410406
27PIM11.40095761
28MATK1.35852202
29ZAP701.34075628
30LYN1.32898563
31YES11.32690238
32BMX1.27000112
33BTK1.25594224
34HCK1.25292986
35MAP3K131.22499567
36CSF1R1.20559405
37TEC1.18427971
38MST41.11356397
39EIF2AK21.11194249
40NME21.10555313
41KSR21.09153667
42GRK71.08002272
43ABL21.06458025
44FGR1.03446460
45ERN11.03285049
46LCK1.03038641
47JAK21.01804924
48ERBB30.95070992
49SIK30.94685835
50MARK30.90231771
51TRPM70.86845799
52MST1R0.86136307
53PRKCD0.85049759
54MARK20.84586583
55TAOK20.83817184
56RPS6KA40.82637136
57CLK10.80633870
58PRKD20.80143679
59CDK190.79619825
60TESK20.79449584
61ADRBK20.77360776
62MAP3K120.76623891
63IRAK20.75874947
64PTK60.75147746
65CDC42BPA0.72288613
66DAPK20.70674529
67FES0.70042559
68TAOK30.69016171
69STK40.68785086
70IRAK10.66561210
71MAP3K50.65969426
72MAP3K20.65782907
73ABL10.65348464
74ARAF0.64165453
75PDK20.61392818
76STK100.61238257
77MAP3K110.57994774
78FGFR30.57949982
79LRRK20.57190512
80EGFR0.56976572
81MAP2K40.56468480
82EPHB10.56054401
83MAP2K30.53446794
84MAPK70.53081931
85CAMKK20.50747843
86PTK2B0.50215187
87MAP3K60.50129215
88STK110.49726615
89SGK30.44013619
90RPS6KA60.43680688
91MAP3K70.43606276
92DYRK1B0.43149063
93HIPK20.41571318
94ACVR1B0.41445978
95MAP2K60.40936342
96PDK10.39117922
97MOS0.38188468
98SMG10.37056837
99PRKCQ0.35949645
100ITK0.35936510
101KSR10.35853003
102MAPKAPK20.35367771
103NEK60.34872512
104PRKCZ0.32650088
105RAF10.32641640
106PDPK10.32128186
107ALK0.30732771
108CAMKK10.29868947
109RPS6KC10.29069969
110RPS6KL10.29069969
111RET0.28826742
112FGFR40.27672284
113CDK60.27513925
114IGF1R0.25138939
115SIK20.24524173
116RPS6KA20.24068837
117PRPF4B0.23527402
118STK240.22866437
119FYN0.22594117
120BMPR1B0.20948234
121ERBB40.20048159
122MAPK40.17706859
123MAP3K10.17388413
124RPS6KA50.17313897
125RPS6KA10.16245199
126EPHA30.16155096
127NLK0.15439309
128PRKG20.15271805
129MAPK120.14214179
130STK30.13992220
131INSR0.13367575
132PIK3CG0.12035712
133RIPK10.11508498
134MAPK30.11394968

Predicted pathways (KEGG)

RankGene SetZ-score
1Leishmaniasis_Homo sapiens_hsa051403.48604291
2* Staphylococcus aureus infection_Homo sapiens_hsa051503.32586287
3Graft-versus-host disease_Homo sapiens_hsa053323.31996139
4Toll-like receptor signaling pathway_Homo sapiens_hsa046202.90133334
5Legionellosis_Homo sapiens_hsa051342.77135605
6Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.71788225
7Allograft rejection_Homo sapiens_hsa053302.66933977
8NF-kappa B signaling pathway_Homo sapiens_hsa040642.58573551
9Pertussis_Homo sapiens_hsa051332.51180900
10NOD-like receptor signaling pathway_Homo sapiens_hsa046212.41065608
11Osteoclast differentiation_Homo sapiens_hsa043802.37166790
12Rheumatoid arthritis_Homo sapiens_hsa053232.35717045
13Malaria_Homo sapiens_hsa051442.29338014
14Tuberculosis_Homo sapiens_hsa051522.27638726
15RIG-I-like receptor signaling pathway_Homo sapiens_hsa046222.17091597
16Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.14314119
17Asthma_Homo sapiens_hsa053102.12585843
18Lysosome_Homo sapiens_hsa041422.06956330
19Type I diabetes mellitus_Homo sapiens_hsa049402.06641855
20Measles_Homo sapiens_hsa051622.03178885
21Salmonella infection_Homo sapiens_hsa051321.92839538
22Intestinal immune network for IgA production_Homo sapiens_hsa046721.90347525
23TNF signaling pathway_Homo sapiens_hsa046681.80787752
24Influenza A_Homo sapiens_hsa051641.76940154
25Other glycan degradation_Homo sapiens_hsa005111.75327933
26Phagosome_Homo sapiens_hsa041451.71747786
27African trypanosomiasis_Homo sapiens_hsa051431.64869705
28Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.58276579
29Hematopoietic cell lineage_Homo sapiens_hsa046401.55592922
30B cell receptor signaling pathway_Homo sapiens_hsa046621.53490047
31Glycosaminoglycan degradation_Homo sapiens_hsa005311.50367309
32Herpes simplex infection_Homo sapiens_hsa051681.50236427
33Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.49618165
34Toxoplasmosis_Homo sapiens_hsa051451.43114409
35Chemokine signaling pathway_Homo sapiens_hsa040621.39368798
36Apoptosis_Homo sapiens_hsa042101.33311734
37Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.32122101
38Antigen processing and presentation_Homo sapiens_hsa046121.31912061
39Autoimmune thyroid disease_Homo sapiens_hsa053201.28019765
40Jak-STAT signaling pathway_Homo sapiens_hsa046301.26220215
41Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.20648804
42Shigellosis_Homo sapiens_hsa051311.14474579
43Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.09406020
44Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.03679083
45Viral myocarditis_Homo sapiens_hsa054161.02195384
46Primary immunodeficiency_Homo sapiens_hsa053401.01007495
47Prion diseases_Homo sapiens_hsa050200.95846320
48Complement and coagulation cascades_Homo sapiens_hsa046100.92558887
49Hepatitis B_Homo sapiens_hsa051610.92471585
50AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.91781579
51Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.91021301
52Hepatitis C_Homo sapiens_hsa051600.87426795
53Non-small cell lung cancer_Homo sapiens_hsa052230.87208683
54Amoebiasis_Homo sapiens_hsa051460.82750438
55Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.82663258
56Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.74157938
57Leukocyte transendothelial migration_Homo sapiens_hsa046700.72475391
58Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.70195586
59Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.67383016
60Renal cell carcinoma_Homo sapiens_hsa052110.63546688
61Acute myeloid leukemia_Homo sapiens_hsa052210.62664200
62T cell receptor signaling pathway_Homo sapiens_hsa046600.61878274
63Platelet activation_Homo sapiens_hsa046110.60806918
64Collecting duct acid secretion_Homo sapiens_hsa049660.59483310
65Carbohydrate digestion and absorption_Homo sapiens_hsa049730.59017744
66Dorso-ventral axis formation_Homo sapiens_hsa043200.56652792
67SNARE interactions in vesicular transport_Homo sapiens_hsa041300.55563938
68Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.55482521
69Phospholipase D signaling pathway_Homo sapiens_hsa040720.54147219
70Transcriptional misregulation in cancer_Homo sapiens_hsa052020.51957771
71Neurotrophin signaling pathway_Homo sapiens_hsa047220.50186749
72Mineral absorption_Homo sapiens_hsa049780.47717368
73GnRH signaling pathway_Homo sapiens_hsa049120.46756881
74Epstein-Barr virus infection_Homo sapiens_hsa051690.46491869
75Sphingolipid metabolism_Homo sapiens_hsa006000.46315861
76Prolactin signaling pathway_Homo sapiens_hsa049170.45705064
77Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.43690442
78Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.42759733
79Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.41223243
80Pentose and glucuronate interconversions_Homo sapiens_hsa000400.40617053
81Sphingolipid signaling pathway_Homo sapiens_hsa040710.40226432
82Chronic myeloid leukemia_Homo sapiens_hsa052200.40127237
83Regulation of autophagy_Homo sapiens_hsa041400.39282711
84Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.37652693
85Choline metabolism in cancer_Homo sapiens_hsa052310.37459009
86Adipocytokine signaling pathway_Homo sapiens_hsa049200.36299298
87Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.35970376
88Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.35841596
89Endometrial cancer_Homo sapiens_hsa052130.35057323
90Insulin resistance_Homo sapiens_hsa049310.34884829
91Phosphatidylinositol signaling system_Homo sapiens_hsa040700.33247391
92Rap1 signaling pathway_Homo sapiens_hsa040150.32571927
93Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.32501907
94Pancreatic cancer_Homo sapiens_hsa052120.32268884
95Glycerophospholipid metabolism_Homo sapiens_hsa005640.32015521
96HIF-1 signaling pathway_Homo sapiens_hsa040660.29808229
97mTOR signaling pathway_Homo sapiens_hsa041500.28468142
98Caffeine metabolism_Homo sapiens_hsa002320.27709157
99Notch signaling pathway_Homo sapiens_hsa043300.27399070
100Arachidonic acid metabolism_Homo sapiens_hsa005900.23684316
101Ether lipid metabolism_Homo sapiens_hsa005650.22265038
102Regulation of actin cytoskeleton_Homo sapiens_hsa048100.19931174
103Viral carcinogenesis_Homo sapiens_hsa052030.19542796
104Small cell lung cancer_Homo sapiens_hsa052220.17021029
105Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.14511887
106Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.13857034
107Vibrio cholerae infection_Homo sapiens_hsa051100.13752301
108Steroid biosynthesis_Homo sapiens_hsa001000.13451623
109HTLV-I infection_Homo sapiens_hsa051660.11444685
110Endocytosis_Homo sapiens_hsa041440.11441938
111FoxO signaling pathway_Homo sapiens_hsa040680.11347991
112Type II diabetes mellitus_Homo sapiens_hsa049300.10454741
113Renin-angiotensin system_Homo sapiens_hsa046140.10052190
114Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.06589838
115VEGF signaling pathway_Homo sapiens_hsa043700.06541274
116Proteoglycans in cancer_Homo sapiens_hsa052050.06457980
117MAPK signaling pathway_Homo sapiens_hsa040100.06113757

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